scholarly journals The Importance of Prenatal Diagnosis By Chorionic Villous Sampling in Detecting and Preventing Beta Haemoglobinopathies in a Resource Poor Setting: A Report from Eastern Part of India

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 2348-2348
Author(s):  
Ankita Sen ◽  
Rajib De ◽  
Tuphan Kanti Dolai ◽  
Prakas Kumar Mandal ◽  
Shyamali Dutta ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cord Blood ◽  
Financial Constraints ◽  
Conflicts Of Interest ◽  
Thalassemia Major ◽  
The Other ◽  
Registry Data ◽  
Compound Heterozygous ◽  
Inherited Disorders ◽  
Thalassemia Trait

Abstract Introduction: β Haemoglobinopathy, is one of the commonest inherited disorders, with a higher prevalence in the eastern part of India. In view of the lack of facilities for allogeneic stem cell transplantation, including financial constraints, this disease is considered to be incurable in this part of India. So, preventing the birth of a symptomatic Thalassemic child is the best way to prevent the disease, considering the immense medical, social & financial implications in the community. Therefore, prenatal diagnosis is the most important tool for detecting & preventing symptomatic haemoglobinopathies. Objectives: To detect the status of haemoglobinopathies in the foetus of carrier or affected parents, so as to prevent the birth of symptomatic patients with Thalassemia & other haemoglobinopathies. Material & Methods: This is a retrospective analysis of an ongoing registry data of routine prenatal diagnosis of haemoglobinopathy, conducted at NRS Medical College, Kolkata, over a period of approximately 4 ½ years (September,2013-April,2018). The process involves, collection of Ultrasound guided chorionic villous samples (CVS) by an Obstetrician between 12-16 weeks of gestation (maximum up to 19 weeks). Considering the prevalence of specific mutations in this part of India, a total of 25 β mutations are analysed by ARMS-PCR, using specific probes. Some of the common mutations tested are: IVS1-5(G→C), 619bp del, IVS 1-1(G→T), CD 30(G→C), CD 26(G→A) & CD6 (A→T). Results: Total number of CVS were 407(407 mothers were tested), of which 329 samples (80.8%) showed presence of β haemoglobinopathy mutations, & 78(19.2%) did not have any mutations. Among the mutated genotype, heterozygous carrier state was detected in 232(57%), & homozygous/ compound heterozygous state(affected) was detected in 92 foetuses (22.6%). Among the carriers, β Thalassaemia trait was most common(n=185,45.45%), followed by HbE Trait(n=41,10.07%). HbS trait(n=3), HbD trait(n=1) & δβ Thalassemia trait (n=2) were rarely detected. Among the affected foetuses, 44 had compound heterozygous genotype (10.8%), majority being HbEβ thalassemia (n=42,10.3%), followed by δβ-β Thalassemia(n=1) & HbSβ Thalassemia(n=1). The remaining 48 affected cases were homozygous β Thalassemia Major (11.7%). Of the 92 affected pregnancies, 91(22.35%) had been counselled for medical termination of pregnancy (MTP). One case of δβ-β Thalassemia, a milder phenotype, was excluded from MTP counselling. Total number of β mutations detected (both homozygous & heterozygous states) were n=373, and the commonest was IVS1-5(G→C) (n=244,65.4%), followed by CD 26(G→A) (n=85,22.78%), CD 30(G→C) (n=9,2.4%), CD 41/42(-CTTT) (n=8,2.1%), CD 15(G→A) (n=8,2.1%) & CD8/9 (+G) (n=4,1.1%). Rarer β mutations detected were CD15(-T) (n=4,1.1%), CD16(-C) (n=1), CD6 (A→T) (n=4,1.1%), βD-PunjabCD121 (G→C) (n=3) & Asian Indian inversion deletion Gγ (Aγδβ)0(n=2). We know that sometimes maternal cell contamination may occur during villous sampling. So, at the time of childbirth, cord blood was collected & β mutation studies were re-performed. If this could not be done, an HPLC was conducted when the child was >1year old. We have data of 26 children & each time the results have corroborated with the primary CVS sampling data. Among both male and female parents(n=814), the commonest genotype was β Thalassemia Trait (n=621, 76.3%). Among the female parents(n=407), some of the other genotypes were HbE Trait (n=94,23.09%) & HbS trait(n=4,0.98%). Among the male parents(n=407), HbE Trait(n=70,17.19%) was the 2nd most common abnormality, few of the other genotypes being: HbS Trait (5,1.2%), β Thalassemia major (n=3,0.73%) & HbE homozygous disease (n=3, 0.73%). Conclusions: From this cohort, total affected (homozygous/compound heterozygous) foetuses are 92(22.6%). β Thalassemia Major (11.7%) is the most common affliction, followed by HbEβ thalassemia (10.3%) & δβ - β Thalassemia. An attempt at prevention of birth of at least 91(22.35%) future thalassemia patients has been done by means of MTP. Ours is an ongoing registry data and we are following up the children by conducting cord blood mutation studies or HPLC (>1year old child), to study the precision and accuracy of our CVS sampling results. So far there has been 100% concordance. One of the limitations of our study is lesser number of reconfirmation of the born children, in view of social and financial constraints. Disclosures No relevant conflicts of interest to declare.

HHV-6 Encephalitis in Pediatric Unrelated Umbilical Cord Blood Transplantation: Role for Ganciclovir Prophylaxis?

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4667-4667
Author(s):  
Frankie Wai Tsoi Cheng ◽  
Vincent Lee ◽  
Wing Kwan Leung ◽  
Paul Kay Sheung Chan ◽  
Ting Fan Leung ◽  
...  
Keyword(s):  
Cord Blood ◽  
Umbilical Cord ◽  
Umbilical Cord Blood ◽  
Conflicts Of Interest ◽  
Rare Complication ◽  
Cord Blood Transplantation ◽  
The Other ◽  
Cell Transplant ◽  
Hematopoietic Stem ◽  
Before And After

Abstract Abstract 4667 Background The role of ganciclovir as HHV-6 prophylaxis in unrelated hematopoietic stem cell transplant (HSCT) setting remains controversial. Methods We performed a 8-year retrospective review of patients received unrelated HSCT from January 2000 to September 2008. From January 2002, ganciclovir prophylaxis 5mg/kg twice daily for 7 days for all unrelated HSCT before transplant was adopted. The other transplant policies including antibacterial, antifungal, antiviral and graft-versus-host disease control policies remained unchange in that period. The prevalence of HHV-6 encephalitis was studied before and after the change in policy. Result Fifty-four unrelated HSCT were performed from January, 2000 to September, 2008. Total four cases (7.4%) of HHV-6 encephalitis were diagnosed. Two cases out of 16 cases (12.5%) diagnosed before adoption of the policy; 2 cases out of 38 cases (5.3%) diagnosed afterward. All of them were unrelated umbilical cord blood (UCB) transplant recipients. Two cases had significant residual neurological deficit and refractory seizure. The other two cases died of other transplant-related mortalities. Conclusion We conclude that HHV-6 encephalitis is still a rare complication of unrelated HSCT and may be more common in unrelated UCB transplantation. Routine use of ganciclovir as HHV-6 prophylaxis in all unrelated HSCT recipients may not be justified. Disclosures: No relevant conflicts of interest to declare.

The Phenotypic Expression of Homozygous and Compound Heterozygous Factor V R506Q (Factor V Leiden, FVL) and Factor II A20210G: Ten Years Experience At a Referral Center

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 5252-5252
Author(s):  
Hamid A B Al-Mondhiry ◽  
Thomas P Nifong ◽  
Mary Elaine Eyster
Keyword(s):  
Recurrent Events ◽  
Conflicts Of Interest ◽  
Phenotypic Expression ◽  
Factor V Leiden ◽  
The Other ◽  
Compound Heterozygous ◽  
Factor V ◽  
Degree Relative ◽  
Referral Center ◽  
Factor Ii

Abstract Abstract 5252 Heterozygous Factor V Leiden, the most common inherited thrombotic disorder with an estimated incidence of about 5% in Caucasian population, poses a moderate risk of first venous thromboembolic (VTE) event. The homozygous and compound heterozygous states are comparatively rare but are thought to be associated with high risk of recurrent VTE. This report describes ten years experience with homozygous and compound heterozygous FVL and Factor II A20210G at a major referral center in central Pennsylvania, USA. Between January 2000 and December 2010, 31 homozygous F VL patients, 2 homozygous FII A20210G, 10 compound heterozygous FVL and F II A20210G and 6 compound heterozygous F VL and protein C (PC), protein S (PS) or antithrombin (AT) deficiency were encountered. The reasons for referral were personal or family history of VTE or a first degree relative diagnosed with any of these conditions. Among these patients, 5 homozygous F VL, 1 compound heterozygous F VL and F II A20210G, and 1 compound heterozygous factor VL and PC deficiency remained free of VTE at age 17–64 years, even though they were exposed to prothrombotic conditions, e.g., surgery, hormones or pregnancy. Two compound heterozygous F VL and PS deficient patients suffered ischemic strokes, one at age 3 ½ years and the other at age 45 years, but no VTE. The other patients suffered lower extremity deep vein thrombosis and/or pulmonary embolism or visceral thrombosis. Most had recurrent events. Our experience highlights the serious thrombotic risks associated with homozygous and compound heterozygous F VL and F II A20210G status but also indicates that some patients remain thrombosis free despite exposure to additional prothrombotic conditions. However, because of referral bias this series of patients may not truly reflect the overall occurrence of VTE in patients with homozygous or compound heterozygous inherited thrombophilia. Disclosures: No relevant conflicts of interest to declare.

Combined Transplantation of Bone Marrow and Umbilical Cord Blood of Same Sibling in Twenty Three Children with Beta-Thalassemia Major

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4506-4506
Author(s):  
Wu Xuedong ◽  
Li Chunfu ◽  
Xiaoqin Feng ◽  
Yuelin He ◽  
Xiaohui Zhou ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Cord Blood ◽  
Umbilical Cord ◽  
Umbilical Cord Blood ◽  
Conflicts Of Interest ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Stimulating Factor

Abstract Abstract 4506 Objective: To investigate the effect of transplantation using bone marrow plus umbilical cord blood from same sibling in children with β-thalassemia major (TM). Methods: Twenty three TM patients undergoing transplantation of bone marrow and umbilical cord blood of same sibling aged from 4.0 to 12 years, 13 boys and 10 girls, were recruited at the Department of Pediatrics, Nanfang Hospital, Southern Medical University from January 2005 to June 2012. The patients were classified into three classes, class¢ñ to class ¢ò 22 cases and class ¢ó 1 case. Donors ranged 1–4 years received 10 Ìg/kg per day of subcutaneous granulocyte colony-stimulating factor (G-CSF) for 5 consecutive days. Bone marrow was harvested on the fifth day. Bone marrow and umbilical cord blood of the same sibling then were transfused into the patient. Results: Recovery of hematopoiesis was gained in all patients 4 weeks following transplantation. Seventeen patients suffered from infection of different degree. Six patients developed mild venous occlusive disease. Four patients developed grade¢ñacute graft-versus-host disease (GVHD), and one developed grade¢ñchronic GVHD. Of twenty three patients, twenty survived, three died of whom, one died of lung infection and heart failure 32 days following transplantation, one died of organ failue on 47days after transplantation, and the other one died of lung fugal infection 22 months after transplantation. Conclusion: Combined transplantation of granulocyte colony-stimulating factor primed bone marrow and umbilical cord blood of same sibling in children with β-thalassemia major is safe and effective with promising results. However, complications should be paid high attention following transplantation. Disclosures: No relevant conflicts of interest to declare.

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR

2018 ◽  
Vol 56 (5) ◽  
pp. 728-738 ◽  
Author(s):  
Aurélia Gruber ◽  
Mathilde Pacault ◽  
Laila Allach El Khattabi ◽  
Nicolas Vaucouleur ◽  
Lucie Orhant ◽  
...  
Keyword(s):  
At Risk ◽  
Prenatal Diagnosis ◽  
Digital Pcr ◽  
Maternal Plasma ◽  
Droplet Digital Pcr ◽  
Compound Heterozygous ◽  
Inherited Disorders ◽  
Non Invasive ◽  
Cell Free Fetal Dna ◽  
Monogenic Diseases

Abstract Background: To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR). Methods: This study included four couples at risk of transmitting paternal neurofibromatosis type 1 (NF1) mutations and four couples at risk of transmitting compound heterozygous CFTR mutations. NIPD was performed between 8 and 15 weeks of gestation, in parallel to conventional invasive diagnosis. We designed specific hydrolysis probes to detect the paternal mutation and to assess the presence of cell-free fetal DNA by ddPCR. Analytical performances of each assay were determined from paternal sample, an then fetal genotype was inferred from maternal plasma sample. Results: Presence or absence of the paternal mutant allele was correctly determined in all the studied plasma DNA samples. Conclusions: We report an NIPD protocol suitable for implementation in an experienced laboratory of molecular genetics. Our proof-of-principle results point out a high accuracy for early detection of paternal NF1 and CFTR mutations in cell-free DNA, and open new perspectives for extending the technology to NIPD of many other monogenic diseases.

scholarly journals Quality of Life Among Adolescents with Beta-Thalassemia Major (TM) in Qatar

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4906-4906
Author(s):  
Abdulqadir Jeprel Nashwan ◽  
Mohamed A Yassin ◽  
Ganga Babu ◽  
Sindhumole LK Nair ◽  
Izette Libo-on ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Children And Adolescents ◽  
Conflicts Of Interest ◽  
Indian Subcontinent ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Common Disease ◽  
Inherited Disorders ◽  
Middle East Countries

Abstract BACKGROUND: Thalassemia is a heterogeneous group of inherited disorders of hemoglobin synthesis. It is a common disease in Mediterranean, Southeast Asia, Indian subcontinent, and Middle East countries, including Qatar. PURPOSE: The aim of this study was to assess the quality of life (QOL) among patients aged 14 to 18 years with thalassemia major (TM) in Qatar and correlates their QOL with bio-demographic data of the patients compared to healthy controls. MATERIALS AND METHODS: This cross-sectional study measured the QOL in adolescents with thalassemia major who were attending ambulatory units in a tertiary hospital in Qatar. Forty children and adolescents with TM and 40 healthy participants were enrolled in the study. Forty-two (52.5%) participants were males and 38 (47.5%) females. Data were collected utilizing PedsQLTM 4.0 generic core scale and were analyzed using the appropriate statistical method. RESULTS: Children with TM had significantly lower and more variable overall quality of life score (69.1 ± 16.8) compared to healthy matched children (77 ± 12.8), (p <0.001). Both groups were not different from the physical, emotional, and social domains. Thalassemic adolescents had also a significantly lower school performance. CONCLUSIONS: TM adversely affects the QOL of children and adolescents and this necessitates applying more efforts to help them improve and achieve a desirable quality of life. Patients with TM need more attention in schools that can be accomplished by implementing a special program for their management that needs a mutual collaboration between Ministry of Public Health (MoPH) and Ministry of Education (MoE) in Qatar. Disclosures No relevant conflicts of interest to declare.

scholarly journals Encouraging Outcome of Using Sibling HLA-Matched Fresh Cord Blood for Children β-Thalassemia Major Transplantation

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 3459-3459 ◽  
Author(s):  
Jianyun Wen ◽  
Libai Chen ◽  
Sixi Liu ◽  
Yuelin He ◽  
Yongsheng Ruan ◽  
...  
Keyword(s):  
Stem Cell ◽  
Cord Blood ◽  
Conflicts Of Interest ◽  
Cord Blood Transplantation ◽  
Chronic Gvhd ◽  
Thalassemia Major ◽  
Effective Treatment Option ◽  
Hematopoietic Stem ◽  
Advantages And Disadvantages

Abstract Background: Hematopoietic stem cell transplantation(HSCT) is currently the only curative treatment for thalassemia major (TM). Cord blood (CB) from a sibling has different characteristics from marrow and has potential advantages and disadvantages as a stem cell source. Methods: We conducted a retrospective study of fresh cord blood transplantation (F-CBT) from the matched human leukocyte antigen (HLA)-identical sibling donors in 35 children (median age at transplantation: 4 years, range:1-7 years) with β-TM from June 2010 to December 2016. The conditioning protocol included intravenous busulfan, cyclophosphamide, fludarabine, and thiotepa. Results:The median collected CB volume was 130ml (range: 79-209ml). The median infused total nucleated cell (TNC) dose was 9.38×107/kg (range: 2.73-18.91×107/kg). One patient had graft failure (GF) on +30day after F-CBT and one patient died from respiratory and heart failure that developed from a pulmonary infection. Of the 33 patients who had a successful engraftment, two patients developed grade II~III acute graft-versus-host disease(GVHD); and one with grade I extensive chronic GVHD was observed during the long-term follow-up period. The median time to neutrophil recovery was +27 days (range: +14 to +49days). The platelet and hemoglobin engraftment times were +33 days (range: +19 to +73 days) and +26 days (range: +11 to +74 days), respectively. All the patients were followed up by December 31, 2017; the median follow-up time was 45 months, and the estimated 5-year overall survival (OS) and TM-free survival (TFS) of F-CBT were 97.1% and 94.2%, respectively. Conclusions: F-CBT from a matched HLA-identical sibling donor is an effective treatment option for β-TM in children with less GVHD. Disclosures No relevant conflicts of interest to declare.

Molecular Epidemiology of β-Thalassemia in Pakistan: Far Reaching Implications

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 5309-5309
Author(s):  
Saqib Hussain Ansari ◽  
Tahir S Shamsi ◽  
Muneera Bohray ◽  
Mohammed Tahir Khan ◽  
Tasneem Farzana ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Ethnic Groups ◽  
Pregnancy Termination ◽  
Chorionic Villus ◽  
Thalassemia Major ◽  
Genetic Mutations ◽  
Chorionic Villus Sampling ◽  
Common Mutation ◽  
Thalassemia Trait

Abstract Abstract 5309 Introduction: β -Thalassaemia, an autosomal recessive hemoglobinopathy, is one of the commonest genetically transmitted disorders throughout the world. Collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing β -thalassemia. To achieve this objective, Identification of the spectrum of genetic mutations, especially for various ethnic backgrounds in Pakistan, since the country is a High Burdon Country. Therefore, we designed a cross sectional study to identify the frequency of various gene mutations in different ethnic groups of Pakistan. Methodology: Over a period of five years, venous blood samples were collected from 466 individuals belonging to different ethnic groups residing in Karachi, having at least one affected family member known to have β-thalassemia major/ HbE- β-thalassemia/ HbE homozygotes/ β-thalassemia trait. Chorionic villus sampling at 11 to 15 weeks gestational age for 143 couples referred by thalassemia clinics as also used to obtain allele information. In all, 648 mutated alleles were identified. The diagnosis of β-thalassemia trait, β-thalassemia major and Hb E thalassemia were established from clinical data, hematological indices and hemoglobin electrophoresis by cellulose acetate method. DNA was extracted from whole blood for detection of mutations. Primers were designed for simultaneous detection of the following previously described mutations in a single reaction: IVS 1–5 (G-C), Fr 8–9, IVS 1-1 (G-T), Cd-30 (G-C), Cd-5 (−CT), Del 619bp, Cd-15 (G-A), Fr 41–42, Fr 16 (−C) and Cap +1 (A-C) along with two Hb variants: HbS and HbE. Results: The genetic heterogeneity in Karachi is reflected by the identification of all the common β-thalassemia alleles and two Hb variants but following eight mutations were more common: IVS 1–5 (G-C), Fr 8–9, Del 619 bp, IVS 1-1 (G-T), Fr 41–42, Cd-30 (G-C), Cd-5 (−CT) and Cd-15 (G-A), accounting for 93.9% of the β-thalassemia alleles. However, the distribution was uneven. Although IVS 1–5 (G-C) was the most common mutation (40.89% of the sample), its frequency varied from 20% in the immigrant (from India) population to 76.9% in the Balochis. The second most frequent mutation was Fr 8–9, constituting 15.7% of the allele pool. Fr 8–9 was the most common mutation in the Pathans (31.3%) as it was in people of Saraikee origin (47%). Discussion: IVSI-5 (G-C),(40.89%), Fr8-9(15.7%), & IVSI-I(G-T),(8.17%), were the most common genetic mutations identified in Pakistan. Knowledge of the predominant mutation in a given ethnic group will not only help in developing a short panel of (population-specific) primers of mutations thereby providing a cost-effective method for prenatal diagnosis and also help the clinicians for genetic counseling and pregnancy termination. Disclosures: No relevant conflicts of interest to declare.

Outcome of Patients with Beta-Thalassemia Major Given Either Bone Marrow and Frozen Cord Blood of Same Sibling or Bone Marrow Transplantation from Sibling Donors

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2538-2538
Author(s):  
Xuedong Wu ◽  
Jianyun Wen ◽  
Pei Fuyu ◽  
Libai Chen ◽  
Jianyun Liao ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Stem Cell ◽  
Cord Blood ◽  
Conflicts Of Interest ◽  
Thalassemia Major ◽  
Marrow Transplant ◽  
Beta Thalassemia ◽  
Hematopoietic Stem ◽  
Cell Sources ◽  
Insignificant Difference

Abstract Background: Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for thalassemia major (TM). Bone marrow (BM) and cord blood (CB) are biologically different stem cell sources. Methods: We analyed the results of a retrospective study of HSCT in 29 chlidren (median age at transplantation was 6 years old) with β-TM after the combined infusion of G-CSF primed bone marrow (BM) and cord blood (CB) from the same transplantation to outcomes in children with β-TM who had received BM (n=26).Patients treated with bone marrow transplant (BMT)were closely matched to the co-transplant group in terms of age, human leucocyte antigen (HLA) matching and duration of follow-up.Compared to BMT group, the donors in co-transplant group were younger (median age 2 vs. 4 years old, p=0.015) Results: In the co-transplant group,the mean total nucleated cells (TNC) was 2.63×108/kg(range,1.26-3.72×108/kg) and the CB was 0.39×108/kg(range,0.27-0.71×108/kg), respectively.The mean TNC (3.02 vs. 2.79×108/kg, p=0.532) and CD34+cells (7.55 vs. 6.94×106/kg, p=0.227) were insignificantly difference between the co-transplant group and BMT group. Of the 53 patients who had successful engraftment,patients who received a co-transplant had a lower incidence of ≥ grade II acute (3.3 vs. 20.8, p=0.047) and chronic(0vs.16.7%,p=0.022) graft versus host disease (GVHD) compared to BM transplant (BMT) recipients. There was no graft rejection (GR) after co-transplant, but GR happened two patients (7.7%) in BMT group(p=0.132).We found insignificant difference in neutrophils (18.7vs.19.9 days, p= 0.956) and platelet (24.7vs. 26.2 days, p=0.235) engraftment time between the co-transplant and BMT group. All patients were followed up until june 30, 2014, the 5 year probability of overall survival (OS), transplant free survival (TFS) and transplant-related mortality (TRM) were similar for the two groups. The 5-year probability of OS and TFS were 89.7% and 89.7% in the co-transplant group, 92.3%and 84.6% after BMT (P=0.740 and 0.573, respectively). Conclusions: Our data suggest that the lower risk of GVHD is retained with co-transplant group. The incidence of GR lower in the co-transplant group, although a larger cohort of patients will be needed to confirm this inital obser-vation.Here,we suggest transplantation of G-CSF primed BM a,nd CB of same sibling appears to be a feasible and effective strategy to further optimize outcomes of HSCT for TM with decreasing the risk of the occurrence of GVHD. Disclosures No relevant conflicts of interest to declare.

scholarly journals Role of cation-exchange high-performance liquid chromatography in detection of hemoglobinopathies- a study of 500 cases in a tertiary care hospital

2021 ◽  
Vol 11 (1) ◽  
pp. 1803-1810
Author(s):  
Sneha Samir Babaria ◽  
Puja Bhavesh Jarwani ◽  
Sadhana Lalit Kothari ◽  
Shantibhai Patel
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Cation Exchange ◽  
Sickle Cell ◽  
High Performance ◽  
Thalassemia Major ◽  
Automated System ◽  
Care Hospital ◽  
Inherited Disorders ◽  
Thalassemia Trait

Background: Abnormalities of hemoglobin synthesis are among the most common inherited disorders. Cation exchange high-performance liquid chromatography offers a reliable tool for early, accurate detection thereby aiding in the prevention and management of thalassemia major and various hemoglobinopathies.  Materials and methods: This was a retrospective study carried out in the Department of Pathology, GCSMC Hospital and Research center, Ahmedabad over six years from August 2013 to August 2019. 500 cases were studied for the identification of various hemoglobin disorders in patients referred for screening and detection of hemoglobinopathies.Results: Abnormal hemoglobin fractions were seen in 104/500 (20.8%) cases. The β thalassemia trait was the predominant abnormality with a total of 69 cases (66.3%). β thalassemia major, β thalassemia intermedia, Hb D Punjab- β thalassemia, Acquired Hb F and Hereditary persistence of fetal hemoglobin/δβ thalassemia trait was found in 1 case (0.96%) each. Sickle cell heterozygous was found in 9 cases (8.6%), Sickle cell homozygous in 5 cases (4.8%), and Sickle-ß thalassemia in 6 cases (5.8%). Other variants detected included Hb Q India heterozygous and Hb D Punjab heterozygous in 3 cases (2.9%) each and 2 cases (1.9%) of Hb E heterozygous and Hb J each.  Conclusions: Cation exchange high-performance liquid chromatography is an ideal and widely used methodology for routine clinical laboratory because of the simplicity of the automated system. The majority of the abnormal cases are diagnosed with it except a few inconclusive cases for which molecular and genetic studies are required.

scholarly journals GENETIC HETEROGENEITY OF BETA GLOBIN MUTATIONS AMONG ASIAN-INDIANS AND IMPORTANCE IN GENETIC COUNSELLING AND DIAGNOSIS

2013 ◽  
Vol 5 (1) ◽  
pp. e2013003 ◽  
Author(s):  
Ravindra Kumar ◽  
Kritanjali Singh ◽  
Inusha Panigrahi ◽  
Sarita Agarwal
Keyword(s):  
Health Care ◽  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Asian Indians ◽  
Thalassemia Major ◽  
Common Mutation ◽  
Beta Globin ◽  
Muslim Community ◽  
Significant Burden ◽  
Thalassemia Trait

There are an estimated 45 million carriers of β-thalassemia trait and about 12,000-15,000 infants with β-thalassemia major are born every year in India. The consanguinity rates are higher in India, and thalassemia major constitutes a significant burden on the health care system. In present study, β-thalassemia mutations were characterized in 300 thalassemia cases from 2007 to 2010 using ARMS-PCR and DNA sequencing. The five most common mutations accounted 79.3% of the studied chromosomes that includes IVS1-5(G>C), Cod 41-42(-TCTT), Cod8-9(+G), Cod16(-C) and 619bp del. Though IVS1-5(G>C) is most common mutation when all the communities were included, the percentage prevalence were calculated on sub caste basis and found that IVS1-5(G>C) percentage prevalence varied from 25 to 60 in Aroras & Khatris and Thakur respectively. Interestingly Cod41-42(-TCTT) mutation which is the second commonest among the mutations reported was totally absent in Kayasthas and Muslim community. These findings have implications for providing molecular diagnosis, genetic counseling and prenatal diagnosis to high risk couples of β-thalassemia. 

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